TGFBI (BIGH3) gene mutations in German families: Two novel mutations associated with unique clinical and histopathological findings

British Journal of Ophthalmology

Volumn 93, Issue 7, 2009, Pages 932-937

  Gruenauer Kloevekorn, C ^a   Clausen, I ^a   Weidle, E ^b   Wolter Roessler, M ^c   Tost, F ^d   Volcker H E ^e   Schulze, D P ^f   Heinritz, W ^g   Reinhard, T ^h   Froster, U ^g   Duncker, G ^a   Schorderet, D ⁱ   Auw Haedrich, C ^h  

^a MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

^b Katharinenhospital ^*  (Germany)

^c Ophthalmic Surgery   (Germany)

^d UNIVERSITY OF GREIFSWALD   (Germany)

^e UNIVERSITY OF HEIDELBERG   (Germany)

^f KLINIKUM ERNST VON BERGMANN   (Germany)

^g UNIVERSITY OF LEIPZIG   (Germany)

^h UNIVERSITY OF FREIBURG   (Germany)

ⁱ Institut de Recherche en Ophtalmologie   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONGENITAL CORNEA DYSTROPHY; CONTROLLED STUDY; CORNEAL BIOPSY; FAMILY STUDY; FEMALE; GENE; GERMANY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; NUCLEOTIDE SEQUENCE; PEDIGREE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; TGFBI GENE;

ADULT; AGE FACTORS; CORNEAL DYSTROPHIES, HEREDITARY; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MUTATION; PEDIGREE; PHENOTYPE; TRANSFORMING GROWTH FACTOR BETA; VISUAL ACUITY; YOUNG ADULT;

EID: 67649653580     PISSN: 00071161     EISSN: 14682079     Source Type: Journal    
DOI: 10.1136/bjo.2008.142927     Document Type: Article

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